ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.490+9A>T

dbSNP: rs1465424178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000505949 SCV000603426 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001480905 SCV001685236 likely benign Cutis laxa, autosomal recessive, type 1B 2024-02-03 criteria provided, single submitter clinical testing

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