ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.2890C>G (p.Pro964Ala)

gnomAD frequency: 0.00001  dbSNP: rs772666638
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 RCV002253005 SCV002523059 uncertain significance See cases 2022-03-16 criteria provided, single submitter clinical testing ACMG classification criteria: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV005058183 SCV005692883 benign not provided 2024-09-30 criteria provided, single submitter clinical testing

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