ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.39G>A (p.Leu13=)

gnomAD frequency: 0.00178  dbSNP: rs764100516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173442 SCV000224557 uncertain significance not provided 2014-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080621 SCV001118116 benign Temtamy preaxial brachydactyly syndrome 2024-10-30 criteria provided, single submitter clinical testing

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