ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.3616A>G (p.Met1206Val)

gnomAD frequency: 0.00001  dbSNP: rs756396172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332006 SCV001524189 uncertain significance Atelosteogenesis type I 2020-06-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003770839 SCV004631287 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing

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