ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val)

dbSNP: rs1251469390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000625633 SCV002775314 uncertain significance Polycystic kidney disease, adult type 2022-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025284 SCV005006701 uncertain significance Inborn genetic diseases 2023-12-05 criteria provided, single submitter clinical testing The c.11681C>T (p.A3894V) alteration is located in exon 42 (coding exon 42) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 11681, causing the alanine (A) at amino acid position 3894 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625633 SCV000746134 uncertain significance Polycystic kidney disease, adult type 2017-09-18 no assertion criteria provided clinical testing

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