ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.123C>A (p.Ala41=)

gnomAD frequency: 0.00001  dbSNP: rs1001828551
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450153 SCV001653751 likely benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2016-07-21 criteria provided, single submitter clinical testing

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