ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144973 SCV003830652 uncertain significance Temtamy preaxial brachydactyly syndrome 2020-09-19 criteria provided, single submitter clinical testing

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