ClinVar Miner

Submissions for variant NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)

dbSNP: rs757650929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV002245505 SCV002515804 uncertain significance Obesity; Global developmental delay; Upslanted palpebral fissure; Macrotia; Macrocephaly 2021-09-08 criteria provided, single submitter research ACMG codes: PM2

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