ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp) (rs376267080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155164 SCV000204850 uncertain significance not specified 2018-07-03 criteria provided, single submitter clinical testing The p.Arg640Trp variant in MYH14 has been previously reported by our laboratory in 1 individual with hearing loss, and it has also been identified in 0.28% (75/ 26920) of South Asian chromosomes including 1 homozygote by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg640Trp variant is uncertain. ACMG/AMP Criteria applied: BS1_Supporting.
Invitae RCV000906499 SCV001051142 likely benign not provided 2018-01-17 criteria provided, single submitter clinical testing

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