ClinVar Miner

Submissions for variant NM_005876.5(SPEG):c.1161G>A (p.Leu387=)

gnomAD frequency: 0.00002  dbSNP: rs772628892
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 RCV002005618 SCV002273754 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002005618 SCV005188306 uncertain significance not provided criteria provided, single submitter not provided

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