ClinVar Miner

Submissions for variant NM_001001936.3(AFAP1L2):c.2190C>T (p.Arg730=)

gnomAD frequency: 0.00112  dbSNP: rs115650575
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 RCV000953309 SCV001099874 benign not provided 2017-08-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000953309 SCV004127537 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing AFAP1L2: BP4, BP7

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