ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.216C>T (p.Ala72=)

gnomAD frequency: 0.00001  dbSNP: rs746201264
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536811 SCV001022265 likely benign Holoprosencephaly 2 2024-04-16 criteria provided, single submitter clinical testing

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