ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.86C>T (p.Ala29Val)

gnomAD frequency: 0.00336  dbSNP: rs530217423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537833 SCV000634358 benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001618724 SCV001846976 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618724 SCV005304718 benign not provided criteria provided, single submitter not provided

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