ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.735C>T (p.Cys245=)

gnomAD frequency: 0.00004  dbSNP: rs143088318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310716 SCV001500624 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001310716 SCV001781121 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001310716 SCV002129532 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing

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