ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.3842C>T (p.Ala1281Val)

gnomAD frequency: 0.00001  dbSNP: rs756055649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330752 SCV001522540 uncertain significance Myopathy, proximal, and ophthalmoplegia 2020-01-22 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 RCV002292630 SCV002585622 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing

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