ClinVar Miner

Submissions for variant NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) (rs147122501)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155186 SCV000204872 benign not specified 2015-06-08 criteria provided, single submitter clinical testing Leu46Phe in exon 2 of MYH9: This variant is not expected to have clinical signif icance because it has been identified in 4.5% (295/6600) of Finnish chromosomes including 5 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs147122501).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155186 SCV000227263 benign not specified 2015-05-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286819 SCV000438492 likely benign MYH9-related disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339441 SCV000438493 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000972196 SCV001119892 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509473 SCV000607103 not provided Macular dystrophy, atypical vitelliform; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant nonsyndromic sensorineural 17 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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