ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=)

gnomAD frequency: 0.00006  dbSNP: rs111333359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950974 SCV002231766 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492129 SCV002796543 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2022-03-24 criteria provided, single submitter clinical testing

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