ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)

gnomAD frequency: 0.00390  dbSNP: rs2230928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518877 SCV001727652 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501812 SCV002808285 likely benign X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type 2022-02-15 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004594290 SCV005086738 likely benign X-linked intellectual disability, van Esch type 2023-07-17 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely benign. Following criteria are met: 0308 - Population frequency for this variant is out of keeping with known incidence of Van Esch-O'Driscoll syndrome (MIM#301030), with 124 hemizygotes and 2 homozygotes in gnomAD v3. (SB) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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