ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.960A>G (p.Leu320=)

gnomAD frequency: 0.00009  dbSNP: rs141199115
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001493960 SCV001698607 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278310 SCV001465310 uncertain significance Pontocerebellar hypoplasia type 2D 2020-04-21 no assertion criteria provided clinical testing

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