ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=)

gnomAD frequency: 0.00012  dbSNP: rs572061488
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252444 SCV002523637 uncertain significance See cases 2020-04-04 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003107973 SCV003781942 benign not provided 2022-06-14 criteria provided, single submitter clinical testing

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