ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=)

gnomAD frequency: 0.00004  dbSNP: rs202213402
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913819 SCV001058975 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495512 SCV002801190 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2022-04-16 criteria provided, single submitter clinical testing

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