ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.750T>C (p.His250=)

gnomAD frequency: 0.00001  dbSNP: rs996651581
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481336 SCV001685678 likely benign Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2020-09-16 criteria provided, single submitter clinical testing

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