ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)

gnomAD frequency: 0.00965  dbSNP: rs11573531
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
Invitae RCV000892384 SCV001036250 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487956 SCV002803490 likely benign X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type 2021-12-16 criteria provided, single submitter clinical testing

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