ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1932C>T (p.Pro644=)

gnomAD frequency: 0.00021  dbSNP: rs199499942
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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 RCV001480479 SCV001684796 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-01-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701170 SCV001926439 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701170 SCV001964054 likely benign not provided no assertion criteria provided clinical testing

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