ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.84T>C (p.His28=)

gnomAD frequency: 0.00014  dbSNP: rs532571185
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479231 SCV001683524 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832625 SCV002082968 likely benign Pontocerebellar hypoplasia type 2D 2020-02-04 no assertion criteria provided clinical testing

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