ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)

gnomAD frequency: 0.00003  dbSNP: rs777061347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644521 SCV000766220 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2023-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311329 SCV001501459 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493024 SCV002804452 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2022-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001311329 SCV005223410 likely benign not provided criteria provided, single submitter not provided

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