ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.615C>T (p.Asn205=)

gnomAD frequency: 0.00001  dbSNP: rs760174107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461285 SCV001665180 likely benign Cutis laxa, autosomal recessive, type 1B 2024-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359028 SCV002660374 likely benign Cardiovascular phenotype 2019-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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