ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.1725C>T (p.Asp575=)

gnomAD frequency: 0.00091  dbSNP: rs151237975
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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 RCV000970722 SCV001118315 benign Temtamy preaxial brachydactyly syndrome 2024-01-03 criteria provided, single submitter clinical testing

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