ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) (rs548525119)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199718 SCV000249786 likely benign not specified 2017-08-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000858566 SCV000283506 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000199718 SCV000302247 likely benign not specified 2016-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360850 SCV000478496 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000199718 SCV000603169 benign not specified 2016-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618412 SCV000738570 benign Cardiovascular phenotype 2017-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc RCV000659434 SCV000781248 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000232945 SCV000782529 benign Ehlers-Danlos syndrome, classic type 2016-11-16 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000232945 SCV000607270 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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