ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=)

gnomAD frequency: 0.00012  dbSNP: rs148344513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334203 SCV001526987 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002070181 SCV002408256 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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