ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709909 SCV000840250 not provided NOTCH1-Related Disorders no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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