ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala)

gnomAD frequency: 0.00012  dbSNP: rs572536541
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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 RCV000973748 SCV001121519 benign Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-08-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001796338 SCV004138357 benign not provided 2023-05-01 criteria provided, single submitter clinical testing STAT5B: PP2, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796338 SCV002036281 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796832 SCV002037946 benign not specified no assertion criteria provided clinical testing

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