ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1027-9T>C

gnomAD frequency: 0.00008  dbSNP: rs368335778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000927879 SCV001073478 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275736 SCV001461166 uncertain significance Pontocerebellar hypoplasia type 2D 2020-04-21 no assertion criteria provided clinical testing

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