ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys)

dbSNP: rs774250442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332074 SCV001524276 uncertain significance Congenital contractural arachnodactyly 2019-10-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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