ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln)

gnomAD frequency: 0.64830  dbSNP: rs5761268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001695224 SCV001912898 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779319 SCV002015876 benign Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001695224 SCV002410345 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001695224 SCV005278590 benign not provided criteria provided, single submitter not provided

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