ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.443G>A (p.Arg148Gln)

gnomAD frequency: 0.00040  dbSNP: rs140409443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002148568 SCV002463278 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002148568 SCV004699618 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FLAD1: BS2
Mayo Clinic Laboratories, Mayo Clinic RCV002148568 SCV005410831 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing BS1

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