ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)

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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 RCV003077341 SCV003461478 benign Temtamy preaxial brachydactyly syndrome 2022-04-18 criteria provided, single submitter clinical testing

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