ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.9930C>T (p.Asn3310=)

gnomAD frequency: 0.00260  dbSNP: rs73272071
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000969210 SCV001116709 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969210 SCV004157445 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FAT2: BP4, BP7, BS2

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