ClinVar Miner

Submissions for variant NM_001001433.3(STX16):c.360T>C (p.His120=)

gnomAD frequency: 0.00018  dbSNP: rs148962992
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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 RCV000911442 SCV001056507 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818831 SCV002070277 likely benign not specified 2020-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495501 SCV002802235 likely benign Pseudohypoparathyroidism type 1B 2021-08-12 criteria provided, single submitter clinical testing

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