ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.7040A>G (p.Gln2347Arg)

gnomAD frequency: 0.36742  dbSNP: rs2236005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639571 SCV001848370 benign not provided 2019-11-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779273 SCV002015880 benign Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001639571 SCV002428548 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639571 SCV005273783 benign not provided criteria provided, single submitter not provided

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