ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5220C>T (p.Asn1740=)

gnomAD frequency: 0.00008  dbSNP: rs531970315
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
CeGaT Center for Human Genetics Tuebingen RCV000513087 SCV000609108 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing FLNB: BP4, BP7, BS2
Invitae RCV000513087 SCV001027596 benign not provided 2024-01-22 criteria provided, single submitter clinical testing

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