ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser)

gnomAD frequency: 0.00001  dbSNP: rs764491130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660555 SCV000782664 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2017-05-22 criteria provided, single submitter clinical testing

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