ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=)

gnomAD frequency: 0.00005  dbSNP: rs377760121
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945358 SCV001091362 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316492 SCV004015445 likely benign Schinzel-Giedion syndrome 2023-07-07 criteria provided, single submitter clinical testing

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