ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu)

gnomAD frequency: 0.00021  dbSNP: rs373698416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825191 SCV000966466 likely benign not specified 2018-05-10 criteria provided, single submitter clinical testing p.Ser665Leu in exon 17 of MYH14: This variant is classified as likely benign bec ause it is present in 0.02% (12/57060) of European chromosomes Genome Aggregatio n Database (gnomAD,; dbSNP rs373698416) and com putational prediction tools and conservation analyses suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Baylor Genetics RCV001332927 SCV001525371 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2019-11-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003411821 SCV004140510 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing MYH14: BP4

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