ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser)

dbSNP: rs2045884809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328971 SCV001520241 uncertain significance X-linked intellectual disability, van Esch type 2019-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001760424 SCV001990730 uncertain significance not provided 2020-12-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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