ClinVar Miner

Submissions for variant NM_001312673.2(PCYT1A):c.36G>T (p.Arg12Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005024579 SCV005658035 uncertain significance Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; Lipodystrophy, congenital generalized, type 5 2024-02-05 criteria provided, single submitter clinical testing

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