ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070001 SCV003470652 benign Congenital contractural arachnodactyly 2022-04-30 criteria provided, single submitter clinical testing

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