ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.303+9076A>G

gnomAD frequency: 0.27108  dbSNP: rs452472
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003491963 SCV004232607 benign Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 2024-01-23 criteria provided, single submitter clinical testing
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. RCV000207142 SCV000258659 uncertain significance Breast ductal adenocarcinoma 2015-07-20 no assertion criteria provided research

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