ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.348C>T (p.Gly116=)

gnomAD frequency: 0.05963  dbSNP: rs34165410
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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 RCV001512803 SCV001720277 benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001692402 SCV001914696 benign not provided 2021-05-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25565750, 23731659)
Breakthrough Genomics, Breakthrough Genomics RCV001692402 SCV005304720 benign not provided criteria provided, single submitter not provided

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