ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val)

gnomAD frequency: 0.00010  dbSNP: rs147134820
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000920724 SCV001066101 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000920724 SCV001501832 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing MYO18B: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000920724 SCV005210215 likely benign not provided criteria provided, single submitter not provided
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007846 SCV001167544 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003923278 SCV004740594 likely benign MYO18B-related disorder 2022-02-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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