ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)

dbSNP: rs138489552
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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 RCV000869877 SCV001011338 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2025-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507508 SCV002807244 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2022-01-10 criteria provided, single submitter clinical testing

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