ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=)

gnomAD frequency: 0.00049  dbSNP: rs372941168
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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 RCV000910194 SCV001055041 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502729 SCV002800335 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2021-08-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000910194 SCV005225375 likely benign not provided criteria provided, single submitter not provided

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