ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.966C>T (p.Arg322=)

gnomAD frequency: 0.00001  dbSNP: rs911382649
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001374297 SCV001571107 uncertain significance Temtamy preaxial brachydactyly syndrome 2021-08-24 criteria provided, single submitter clinical testing

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