ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.1128G>A (p.Val376=)

gnomAD frequency: 0.00236  dbSNP: rs202216461
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000949495 SCV000530582 benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000949495 SCV001095752 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949495 SCV001154278 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing FAT4: BP4, BS1:Supporting
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000949495 SCV001472885 likely benign not provided 2021-10-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000433407 SCV001919943 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000949495 SCV001964674 likely benign not provided no assertion criteria provided clinical testing

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