ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)

gnomAD frequency: 0.00849  dbSNP: rs60707953
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839317 SCV000981212 likely benign not provided 2018-06-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000839317 SCV001101820 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253617 SCV002524483 benign Arterial calcification, generalized, of infancy, 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253615 SCV002524494 benign Autosomal recessive inherited pseudoxanthoma elasticum 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253616 SCV002524505 benign Pseudoxanthoma elasticum, forme fruste 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507452 SCV002805440 likely benign Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839317 SCV005213406 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000839317 SCV001797586 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701447 SCV001924037 benign not specified no assertion criteria provided clinical testing

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