ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=)

gnomAD frequency: 0.00064  dbSNP: rs369101934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000911399 SCV001056464 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479050 SCV002795588 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2021-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000911399 SCV005225377 likely benign not provided criteria provided, single submitter not provided

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