ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.1244C>G (p.Pro415Arg)

gnomAD frequency: 0.00004  dbSNP: rs746792200
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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 RCV001439930 SCV001642833 likely benign not provided 2024-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038222 SCV005664933 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-04-04 criteria provided, single submitter clinical testing

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