ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.306G>A (p.Thr102=)

gnomAD frequency: 0.00024  dbSNP: rs201451750
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
GeneDx RCV001698266 SCV000532969 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522562 SCV002991142 benign Holoprosencephaly 2 2024-10-30 criteria provided, single submitter clinical testing

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