ClinVar Miner

Submissions for variant NM_003019.5(SFTPD):c.367C>G (p.Leu123Val)

gnomAD frequency: 0.02701  dbSNP: rs17878336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151862 SCV000200339 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu123Val in exon 4 of SFTPD: This variant is not expected to have clinical sign ificance because it has been identified in 4.1% (352/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs17878336).
Breakthrough Genomics, Breakthrough Genomics RCV004718065 SCV005318244 benign not provided criteria provided, single submitter not provided

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