ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)

dbSNP: rs752082832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001277787 SCV002780578 uncertain significance Pontocerebellar hypoplasia type 2D 2022-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277787 SCV001464756 uncertain significance Pontocerebellar hypoplasia type 2D 2020-08-14 no assertion criteria provided clinical testing

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