ClinVar Miner

Submissions for variant NM_003923.3(FOXH1):c.130T>G (p.Leu44Val)

gnomAD frequency: 0.00028  dbSNP: rs201691370
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 RCV001490438 SCV001694999 likely benign Holoprosencephaly sequence 2024-07-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706214 SCV005222935 likely benign not provided criteria provided, single submitter not provided

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