ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2663+2T>G (rs762392183)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586590 SCV000698503 likely pathogenic Finnish congenital nephrotic syndrome 2016-10-17 criteria provided, single submitter clinical testing Variant summary: The NPHS1 c.2663+2T>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 in silico prediction tools via alamut predict the complete loss of a 3' splicing donor site. This variant is absent in 70534 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Counsyl RCV000586590 SCV000790006 likely pathogenic Finnish congenital nephrotic syndrome 2017-03-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712428 SCV000842921 pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing

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