ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.10560G>A (p.Met3520Ile)

gnomAD frequency: 0.00047  dbSNP: rs144506470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626045 SCV000746664 uncertain significance Van Maldergem syndrome 2 2016-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418858 SCV001621098 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001418858 SCV001777087 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing

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