ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3958A>G (p.Met1320Val)

gnomAD frequency: 0.00001  dbSNP: rs759481427
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244735 SCV000318706 uncertain significance Cardiovascular phenotype 2013-05-31 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.

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