ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2319A>G (p.Pro773=)

gnomAD frequency: 0.00007  dbSNP: rs752137789
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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 RCV001493396 SCV001698022 likely benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2022-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437211 SCV004166552 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing OFD1: BP4, BP7, BS2

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