ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.975-15C>T

gnomAD frequency: 0.00007  dbSNP: rs768211662
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002573250 SCV003030585 likely benign Cutis laxa, autosomal recessive, type 1B 2024-10-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579555 SCV001807666 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579555 SCV001929313 likely benign not provided no assertion criteria provided clinical testing

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