ClinVar Miner

Submissions for variant NM_001312909.2(FAM111A):c.386G>A (p.Arg129His)

gnomAD frequency: 0.00015  dbSNP: rs150761330
Minimum review status: Collection method:
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000886210 SCV001029702 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252896 SCV001164039 uncertain significance Microcephaly no assertion criteria provided research

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